ClinVar Miner

Submissions for variant NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=)

gnomAD frequency: 0.30680  dbSNP: rs1965707
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223438 SCV000269813 benign not specified 2015-03-12 criteria provided, single submitter clinical testing p.Ser140Ser in exon 6 of SFTPA2: This variant is not expected to have clinical s ignificance it has been identified in 45% (3704/8134) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1965707).
Labcorp Genetics (formerly Invitae), Labcorp RCV000948376 SCV001094581 likely benign not provided 2017-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000948376 SCV001846104 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807143 SCV002055153 benign Interstitial lung disease 2 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000948376 SCV005221765 likely benign not provided criteria provided, single submitter not provided

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